Neuroectodermal Tumor Of Infancy Research Articles

Targeting of Ubiquitin E3 Ligase RNF5 as a Novel Therapeutic Strategy in Neuroectodermal Tumors.

Simple SummaryNeuroblastoma and melanoma represent two common aggressive tumors of infancy and adulthood, respectively, with the same origin and poor prognosis. Despite the aggressive treatment, advanced neuroblastoma and melanoma patients are often refractory to therapy, relapse and die. Thus, novel therapeutic strategies are urgently needed. In this study, we demonstrated that RNF5, a ubiquitin ligase involved in the degradation of misfolded proteins, was expressed in neuroblastoma and melanoma patients and positively correlated with better outcome. In line with this observation, Analog-1, a pharmacological activator of RNF5, exerted a potent cytotoxic effect on in vitro and in vivo neuroblastoma and melanoma models by modulating the metabolism, reducing the growth and inducing the death of tumor cells. This study is of high translational relevance since it validates RNF5 as an innovative drug target and supports the development of novel therapies for neuroblastoma and melanoma patients in order to ameliorate their clinical outcome.RNF5, an endoplasmic reticulum (ER) E3 ubiquitin ligase, participates to the ER-associated protein degradation guaranteeing the protein homeostasis. Depending on tumor model tested, RNF5 exerts pro- or anti-tumor activity. The aim of this study was to elucidate the controversial role of RNF5 in neuroblastoma and melanoma, two neuroectodermal tumors of infancy and adulthood, respectively. RNF5 gene levels are evaluated in publicly available datasets reporting the gene expression profile of melanoma and neuroblastoma primary tumors at diagnosis. The therapeutic effect of Analog-1, an RNF5 pharmacological activator, was investigated on in vitro and in vivo neuroblastoma and melanoma models. In both neuroblastoma and melanoma patients the high expression of RNF5 correlated with a better prognostic outcome. Treatment of neuroblastoma and melanoma cell lines with Analog-1 reduced cell viability by impairing the glutamine availability and energy metabolism through inhibition of F1Fo ATP-synthase activity. This latter event led to a marked increase in oxidative stress, which, in turn, caused cell death. Similarly, neuroblastoma- and melanoma-bearing mice treated with Analog-1 showed a significant delay of tumor growth in comparison to those treated with vehicle only. These findings validate RNF5 as an innovative drug target and support the development of Analog-1 in early phase clinical trials for neuroblastoma and melanoma patients.

PIGMENTED NEUROECTODERMAL TUMOR IN MAXILLA OF AN INFANT : REPORT OF A RARE NEOPLASM IN BANDUNG, INDONESIA

Introduction: Melanotic neuroectodermal tumor of infancy (MNTI) is a rare, locally invasive, fast-growing neoplasm with a high recurrence rate, which usually affecting children under 1 year of age. The tumor originated from the neural crest, most commonly found in the head and neck region, especially in the maxilla. Current standard for treatment is by surgical excision, but the high recurrency rate (10% - 60%) and the possiblity of malignant transformation makes the extent of excision debatable. Case report: An 8 -months-old boy was referred to our department with a rapidly growing mass in the anterior of the maxilla since two months prior. The mass was bluish in color, firm, and non-ulcerative. We treated the patient with excision under general anesthesia. Pathology examination was done and MNTI was confirmed. There is no recurrency at 2 years follow-up. Summary: Diagnosis and treatment of MNTI must be done meticulously due to the aggressive nature of the tumor. Wide surgical excision is the best treatment for this case, and routine follow-up must be done to detect any reccurency. Keywords: melanotic neuroectodermal tumor; infancy; maxilla, surgical excision

Melanocytic lesions of the central nervous system: a case series.

Melanocytic lesions of the central nervous system (CNS) are an infrequent, broad and diverse group of entities, both benign and malignant, found in all age groups, with imaging findings ranging from well-circumscribed focal lesions to diffuse leptomeningeal involvement. On MRI, they are usually distinguished by a high signal on T1WI sequences, given the paramagnetic effect of melanin, thus making it difficult to differentiate among them. To describe the imaging and epidemiological characteristics of a retrospective series of CNS melanocytic lesions. MR images of 23 patients with CNS melanocytic lesions diagnosed between January 2012 and June 2018 were analyzed. Most patients were female (14/23; 61%), with a median age of 47 years (range: 3 weeks to 72 years). The primary melanocytic lesions accounted for 8/19 cases (42.1%), which included neurocutaneous melanosis, meningeal melanocytomas and primary malignant melanomas. Secondary melanocytic lesions (metastatic) accounted for 10/19 cases (52.6%). There was one case of a tumor with secondary melanization, from a melanocytic neuroectodermal tumor of infancy. There were also four cases of primary ocular melanomas. The most frequent findings were the cerebral location, high T1WI signal and marked contrast-enhancement. The present review describes the wide variety of melanocytic lesions that could affect the CNS, emphasizing the MRI characteristics. Knowledge of the imaging, clinical and epidemiological characteristics of CNS melanocytic lesions is essential for their correct interpretation, given the significant overlap between lesion features and the variable prognosis.

Rehabilitation following surgical management of mneti: a splint in time saves nine!

Introduction: Melanotic neuroectodermal tumour of infancy (MNTI) is a rare, rapidly growing pigmented neoplasm of neural crest origin generally arising in infants during the first year of life. The rehabilitation of the anterior defect is necessary to circumvent feeding problems. The area is also a site for primary growth of maxilla and placing a hard splint would restrict the same. We have used a novel way to use a soft splint to overcome this issue with follow up and re-fabrication. Case report: We report a 7 months old male who presented with a rapidly growing mass history of a rapidly growing mass in the upper front part of the jaw a biopsy showed melanotic neuroectodermal tumour, and complete resection with negative margins was subsequently achieved. The patient was reviewed at follow up with a magnetic resonance imaging, which showed no residual remnants. Rehabilitation was done with a soft splint to avoid restriction of maxillary growth. Conclusion: Due to its rapid growth potential and locally destructive behaviour, early diagnosis is extremely important to limit local expansion. The treatment of choice for melanotic neuroectodermal tumour of infancy (MNTI) is surgical excision. Rehabilitation is also important with due attention to avoiding restriction maxillary growth, this was overcome by use of soft splint which has scantly been reported in literature.

A Case Report on Melanotic Neuroectodermal Tumor of Infancy and Review of the Literature

Melanotic neuroectodermal tumor of infancy (MNTI) is a rare, benign neoplasm of neural crest origin that most commonly occurs in the first year of life. The craniofacial area is affected 90% of the time with the maxilla being the affected site in the majority of cases. It has a recurrence rate of up to 27% and is associated with malignant transformation in up to 6.5% of patients. The current case describes the clinical presentation and management of a 3-month old male infant with MNTI of the maxilla. Following initial presentation, the tumor grew rapidly to compromise the aerodigestive tract. Surgical resection was performed and the adjacent bone was burred. There has been no clinical recurrence over a 4-year period of follow up.

Rare Testicular Neoplasm: Melanotic Neuroectodermal Tumor of Infancy

Abstract We report the case of an 18-month-old boy who presented with a several-week history of left testicular swelling. On physical examination, the testicle was firm, enlarged, and nontender to palpation. The patient’s urinary habits and family history were unremarkable. An ultrasound was performed that revealed an enlarged left testis (4.7 cm) with a hypervascular heterogeneous appearance and scattered echogenic foci that raised concern for a neoplastic process. Microlithiasis was identified in the right testis (1.6 cm). AFP and hCG were within normal limits, and LDH was mildly elevated. An orchiectomy was performed and gross dissection revealed a 4.5 × 3.5 × 3.0-cm mass. The tumor was biphasic and composed of a population of poorly differentiated small round blue cells (neuroblastoma-like) and a separate component of nested epithelioid cells that had abundant cytoplasm with melanotic granules. Mitotic and karyorrhectic figures were scattered throughout. Epididymis infiltration was present. The epithelioid cells were pan-cytokeratin, EMA, and HMB-45 positive. The small round blue cells were positive for synaptophysin, vimentin, and CD117. A subpopulation was also moderately positive for CD99. A Phox2B and TDT were negative in the tumor cells, which helped to exclude neuroblastoma and lymphoma. The combined features of this case were diagnostic for melanotic neuroectodermal tumor of infancy (MNTI). This is a rare tumor with a strong predilection for the head and neck region with testicular/paratesticular localization accounting for less than 5% of MNTI cases. MNTIs are classically seen in infants under 1 year of age and typically behave in a benign fashion, although metastases to retroperitoneal lymph nodes and lymphatics have been documented. It is important to remember the differential of pediatric testicular neoplasms as it can mimic other small round blue cell tumors.

Melanotic neuroectodermal tumor of infancy

Abstract Introduction Melanotic neuroectodermal tumor of infancy (MNTI) is a rare, rapidly growing pigmented neoplasm of neural crest origin generally arising in infants during the first year of life. Case We report a 15-month old male who presented with a 2-month history of a rapidly growing mass in the anterior. A biopsy showed melanotic neuroectodermal tumor, and complete resection with negative margins was subsequently achieved. The patient is in remission at 11 months from surgery. Conclusion Due to its rapid growth potential and locally destructive behaviour, early diagnosis is extremely important to limit local expansion. The treatment of choice for melanotic neuroectodermal tumor of infancy (MNTI) is surgical excision.

Melanotic neuroectodermal tumour of infancy: Does cytology give a diagnostic clue?

Melanotic neuroectodermal tumour of infancy: Does cytology give a diagnostic clue?

Benign but Aggressive Tumors of Infancy Report of Two Cases

Melanotic neuroectodermal tumour of infancy and Aggressive desmoid fibromatosis are histologically benign tumors but with aggressive behavior, it’s occurring during the little infancy and are caracterised by Fast-growing, osteolysis and recurrence. The treatment is essentially surgical. Melanotic neuroectodermal tumour of infancy is a rare tumour which affects young children arising from neural crest with a black coloring. It grows rapidly and first touches the maxilla. We related the case of a three-month age male who presents a tumor in the right maxilla. The case have CT scan and histology feature. Aggressive desmoid fibromatosis is a benign tumor with locally infiltrative behavior and tendency to recur. We report a rare case involving the mandible arch of three years old girl with histopathological, immunohistochemical and imaging features. She underwent a large surgically resection of the arch of the mandible, there has been no recurrence three years after.

Obturator Prostheses for Melanotic Neuroectodermal Tumor of Infancy in the Maxilla

Melanotic neuroectodermal tumor of infancy frequently affects the maxilla. A communication between the oral and nasal cavities can be created by surgery. The authors rehabilitated a young patient with obturator prostheses to correct feeding. The association of the obturators with orthodontic devices provided proper maxillary growth and eruption of teeth. The outcomes were very satisfactory after a 3-year follow-up, and dental implants are planned.

Ectopic eye in the maxilla: a report of melanotic neuroectodermal tumor of infancy with an unusual histologic finding and subsequent reconstruction

Ectopic eye in the maxilla: a report of melanotic neuroectodermal tumor of infancy with an unusual histologic finding and subsequent reconstruction

Melanotic neuroectodermal tumor of infancy: Presentation of a case

The melanotic neuroectodermal tumor of infancy (MNTI) is a fairly rare, benign, pigmented lesion with a rapid expansile growth and a high recurrence rate that commonly occurs in the anterior maxilla of infants younger than 1 year and mainly in the first 6 months of life. Microscopically, large polygonal epithelioid cells resembling melanocytes, with variable deposits of melanin, and smaller neuroblast-like round cells characterize MNTI. Malignant transformation may occur. The tumor was first described by Krompecher in 1918 as a congenital melanocarcinoma. In 1992, the designation MNTI was accepted by and used in the World Health Organization classification of odontogenic tumors. One such case was diagnosed in the department of oral pathology and microbiology and is presented.

Melanotic neuroectodermal tumor of infancy- A report of two cases

Melanotic neuroectodermal tumor of infancy- A report of two cases

Melanotic neuroectodermal tumor of infancy in thigh of an infant—a rare case report with diagnostic implications

Melanotic neuroectodermal tumor of infancy (MNTI) is an uncommon tumor of neural crest origin, almost invariably identified in the head and neck region. It is a relatively benign tumor but can recur and rarely metastasize. Herein, a rare case of MNTI in the thigh of an infant is documented. Radiographic imaging showed a sclerotic and lytic lesion in the metadiaphyseal region of the right femur with a soft tissue component. The clinicoradiological impression was of a malignant round cell tumor and osteomyelitis. The patient's urinary vanil mandelic acid (VMA) level was elevated. FNAC smears revealed a tumor with round to polygonal cells, focally containing black melanin pigment. Biopsy and tumor excision revealed a tumor with cells in cords and nests embedded in a fibrocollagenous stroma and showed bone and soft tissue infiltration. On immunohistochemistry, tumor cells displayed immunoreactivity to vimentin, cytokeratin (CK), CK7, CK19, and MIC2, and focal reactivity for synaptophysin and HMB45. Diagnosis of an MNTI was made. The patient underwent induction chemotherapy with extracorporeal radiotherapy, followed by a soft tissue excision that revealed residual tumor. Surgically, free marrow margins were accomplished, and the patient is currently being followed-up. To the best of our knowledge this case is the fifth documented case in the English literature of MNTI in the thigh. The diagnostic and therapeutic implications are discussed.

上顎に発生した幼児の黒色性神経外胚葉性腫瘍の1例

上顎に発生した幼児の黒色性神経外胚葉性腫瘍の1例

MELANOTIC NEUROECTODERMAL TUMOR OF INFANCY IN ORAL CAVITY AT UNUSUAL AGE

The melanotic neuroectodermal tumor of infancy is an extremely rare, fast-growing but benign lesion, commonly occurring in the maxilla of children within the first year of life. Only about 380 cases of this particular tumor have been documented in the medical literature and very few of them have been reported to have occurred in late childhood. We describe here a relatively uncommon presentation of melanotic neuroectodermal tumor of infancy of maxilla arising from palatal gingiva of a 10 year-old female, its course and management by surgical excision with safe margins.

Multicentric melanotic neuroectodermal tumor of infancy: a case report

J Korean Assoc Oral Maxillofac Surg 2010;36:434-7) A melanotic neuroectodermal tumor of infancy (MNTI) is a uncommon osteolytic pigmented neoplasm that primarily affects the jaws of newborn infants. Most patients (> 90%) present with the tumor in the first year of life. Approximately 65% form in the maxilla, 11% in the mandible, 5% in the brain and elsewhere. MNTI is normally benign, but up to 15% may recur and a few have metastasized. Approximately 200 cases of M NTI have been reported but only 2 of them presented as multifocal. A case of MNTI in a 7 month old boy was encountered. The chief complaint w as maxillary anteri- or ridge swelling. The incisional biopsy findings were MNTI. Two months after the first operation, mild swelling of another sit e was observed. The infant was examined periodically since undergoing two procedures with no recurrence. This case demonstrates the possibility of a multicentric MNTI. We report a multicentric MNTI with a review of the relevant literature.

Hemimandibulectomy and autologous costochondral rib graft reconstruction for a case of melanotic neuroectodermal tumour of infancy arising within the mandible

Hemimandibulectomy and autologous costochondral rib graft reconstruction for a case of melanotic neuroectodermal tumour of infancy arising within the mandible

Orbital melanotic neuroectodermal tumor of infancy successfully treated with chemotherapy and subtotal excision

Melanotic neuroectodermal tumor of infancy is a rare condition that typically presents within the first 6 months of life. It rarely metastasizes but is locally aggressive. Melanotic neuroectodermal tumor of infancy has been reported under several other names including retinal anlage tumor and melanotic progonoma. Most commonly, melanotic neuroectodermal tumor of infancy originates in the maxilla. Tumors in previously reported orbital cases have arisen from adjacent structures or from orbital bone. Recommended treatment of melanotic neuroectodermal tumor of infancy has consisted of complete excision with wide tissue margins, although success has been reported after incomplete resection. For those patients in whom surgical resection is not possible, various chemotherapy approaches have been reported with mixed results ranging from failure to sustained tumor regression. We report a case of orbital melanotic neuroectodermal tumor of infancy adherent to sclera and successfully treated with chemotherapy and subtotal excision.

Melanotic neuroectodermal tumor of infancy (progonoma) - Clinical, radiological, pathological features and literature review

Melanotic neuroectodermal tumor of infancy (progonoma) - Clinical, radiological, pathological features and literature review